Canonical Allele Identifier: CA10642949
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311314
ClinVar RCV Id: RCV000315301
dbSNP Id: rs886050015
MyVariant Identifiers: chr13:g.20715274C>G (hg19) chr13:g.20141135C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141135C>G , CM000675.2:g.20141135C>G GRCh38
NC_000013.10:g.20715274C>G , CM000675.1:g.20715274C>G GRCh37
NC_000013.9:g.19613274C>G NCBI36
NG_016399.1:g.24910G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*846G>C MANE Select ENSP00000241125.3:n.*846G>C
ENST00000241125.3:c.*846G>C ENSP00000241125.3:n.*846G>C
NM_021954.3:c.*846G>C NP_068773.2:n.*846G>C
XM_005266353.1:c.*846G>C XP_005266410.1:n.*846G>C
XM_011535048.1:c.*846G>C XP_011533350.1:n.*846G>C
XM_011535048.2:c.*846G>C XP_011533350.1:n.*846G>C
NM_021954.4:c.*846G>C MANE Select NP_068773.2:n.*846G>C
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